Inherited syndrome characterized by multiple
ocular malformations and microcephaly, more commonly
found in premature infants.
Encephalo-Ophthalmic Dysplasia; Congenital
Encephalo-Ophthalmic Dysplasia; Encephalo-Ophthalmic Syndrome;
Ophthalmo-Encephalic Dysplasia; Reese-Blodi Retinal Dysplasia;
Extremely rare. Autosomal
recessive inheritance has been suggested, although in one family inheritance was
described as autosomal dominant with variable expressivity.
Microcephaly and retinal and cerebral dysplasia, more commonly
found in premature infants and single infants of multiple birth. Ocular
findings include microphthalmos, enophthalmos, persistence of the primary vitreous, intraocular
hemorrhages, retinal choroid and optic nerve malformations, glaucoma, cataracts, strabismus, retinal
atrophy, and blindness. Hyperplasia or aplasia of the cerebrum and
cerebellum can occur, resulting in hydrocephalus and mental retardation.
pressure may be present. Developmental delay may make cooperation more difficult. Avoid
succinylcholine in the presence of glaucoma.
HARD Syndrome: An acronymic syndrome (Hydrocephalus, Agyria,
Retinal Dysplasia) that is occasionally associated with an occipital Encephalocele
(± E). Other features include micropenis, cryptorchism, hydronephrosis, pelviureteral
junction obstruction, anoperineal fistula. Usually lethal within the first months of
life. Inheritance is autosomal recessive.
Krause AC: Congenital encephalo-ophthalmic dysplasia. Arch Ophthalmol 36:387, 1946.
Reese AB, Straatsma BR: Retinal dysplasia. Am J Ophthalmol